ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8649A>G (p.Pro2883=) (rs786202069)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164699 SCV000215367 likely benign Hereditary cancer-predisposing syndrome 2014-06-06 criteria provided, single submitter clinical testing
Color RCV000164699 SCV000906583 likely benign Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495732 SCV000579127 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000614980 SCV000730917 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588021 SCV000695169 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8649A>G (p.Pro2883Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. The variant lies within or at the border of the functional tower domain (UMD and InterPro) and one in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not significantly affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant is absent from the large control population database ExAC (0/120156 control chromosomes). In addition, one clinical diagnostic laboratory and multiple reputable databases classified this variant as likely benign or a variant of uncertain significance. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000556857 SCV000635678 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-16 criteria provided, single submitter clinical testing

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